Annotation Detail
Information
- Associated Genes
- LMNA
- Associated Variants
-
LMNA p.Ser143Phe (p.S143F)
(
ENST00000448611.6,
ENST00000368300.9,
ENST00000682650.1,
ENST00000504687.7,
ENST00000676385.2,
ENST00000368299.7,
ENST00000361308.9,
ENST00000683032.1,
ENST00000473598.6,
ENST00000368297.5,
ENST00000675939.1,
ENST00000675667.1,
ENST00000368301.6,
ENST00000677389.1 )
LMNA p.Ser143Phe (p.S143F) ( ENST00000361308.9, ENST00000368297.5, ENST00000368299.7, ENST00000368300.9, ENST00000368301.6, ENST00000448611.6, ENST00000473598.6, ENST00000504687.7, ENST00000675667.1, ENST00000675939.1, ENST00000676385.2, ENST00000677389.1, ENST00000682650.1, ENST00000683032.1 ) - Associated Disease
- progeria
- Source Database
- DisGeNET
- Description
- We have carried out an analysis of the structural and functional consequences of progeria-associated nuclear blebs in dermal fibroblasts from a progeria patient carrying a rare point mutation p.S143F (C428T) in lamin A/C.
- Pubmed
- 25738644
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.627165320663804
- Year of publication
- 2015
Drugs